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Q9HBZ2

- ARNT2_HUMAN

UniProt

Q9HBZ2 - ARNT2_HUMAN

Protein

Aryl hydrocarbon receptor nuclear translocator 2

Gene

ARNT2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 133 (01 Oct 2014)
      Sequence version 2 (06 Feb 2007)
      Previous versions | rss
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    Functioni

    Specifically recognizes the xenobiotic response element (XRE).

    GO - Molecular functioni

    1. aryl hydrocarbon receptor binding Source: UniProtKB
    2. DNA binding Source: UniProtKB-KW
    3. protein heterodimerization activity Source: UniProtKB
    4. sequence-specific DNA binding transcription factor activity Source: UniProtKB
    5. signal transducer activity Source: InterPro

    GO - Biological processi

    1. central nervous system development Source: UniProtKB
    2. in utero embryonic development Source: UniProtKB
    3. negative regulation of apoptotic process Source: Ensembl
    4. positive regulation of cell proliferation Source: Ensembl
    5. positive regulation of transcription, DNA-templated Source: UniProtKB
    6. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
    7. regulation of transcription, DNA-templated Source: MGI
    8. response to estradiol Source: Ensembl
    9. response to hypoxia Source: UniProtKB
    10. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Aryl hydrocarbon receptor nuclear translocator 2
    Short name:
    ARNT protein 2
    Alternative name(s):
    Class E basic helix-loop-helix protein 1
    Short name:
    bHLHe1
    Gene namesi
    Name:ARNT2
    Synonyms:BHLHE1, KIAA0307
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:16876. ARNT2.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. cytoplasm Source: InterPro
    2. nucleus Source: UniProtKB
    3. transcription factor complex Source: Ensembl

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    Orphaneti370006. Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies.
    PharmGKBiPA24995.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 717717Aryl hydrocarbon receptor nuclear translocator 2PRO_0000127122Add
    BLAST

    Proteomic databases

    PaxDbiQ9HBZ2.
    PRIDEiQ9HBZ2.

    PTM databases

    PhosphoSiteiQ9HBZ2.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9HBZ2.
    BgeeiQ9HBZ2.
    CleanExiHS_ARNT2.
    GenevestigatoriQ9HBZ2.

    Organism-specific databases

    HPAiCAB005081.
    HPA001056.

    Interactioni

    Subunit structurei

    Efficient DNA binding requires dimerization with another bHLH protein. Heterodimer with the aryl hydrocarbon receptor (AHR) or the SIM1 protein. Interacts with TACC3 By similarity.By similarity

    Protein-protein interaction databases

    BioGridi115244. 9 interactions.
    IntActiQ9HBZ2. 4 interactions.
    MINTiMINT-2867815.
    STRINGi9606.ENSP00000307479.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9HBZ2.
    SMRiQ9HBZ2. Positions 62-439.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini63 – 11654bHLHPROSITE-ProRule annotationAdd
    BLAST
    Domaini134 – 20976PAS 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini323 – 39371PAS 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini398 – 44144PACAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi73 – 764Poly-Arg
    Compositional biasi440 – 4456Poly-Gln
    Compositional biasi552 – 5554Poly-Ser

    Sequence similaritiesi

    Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation
    Contains 2 PAS (PER-ARNT-SIM) domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG293303.
    HOGENOMiHOG000234380.
    HOVERGENiHBG000164.
    InParanoidiQ9HBZ2.
    KOiK15589.
    OMAiVCMDMSG.
    OrthoDBiEOG7V1FQ8.
    PhylomeDBiQ9HBZ2.
    TreeFamiTF319983.

    Family and domain databases

    Gene3Di4.10.280.10. 1 hit.
    InterProiIPR011598. bHLH_dom.
    IPR001067. Nuc_translocat.
    IPR001610. PAC.
    IPR000014. PAS.
    IPR013767. PAS_fold.
    [Graphical view]
    PfamiPF00010. HLH. 1 hit.
    PF00989. PAS. 1 hit.
    [Graphical view]
    PRINTSiPR00785. NCTRNSLOCATR.
    SMARTiSM00353. HLH. 1 hit.
    SM00086. PAC. 1 hit.
    SM00091. PAS. 2 hits.
    [Graphical view]
    SUPFAMiSSF47459. SSF47459. 1 hit.
    SSF55785. SSF55785. 4 hits.
    TIGRFAMsiTIGR00229. sensory_box. 1 hit.
    PROSITEiPS50888. BHLH. 1 hit.
    PS50112. PAS. 2 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9HBZ2-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MATPAAVNPP EMASDIPGSV TLPVAPMAAT GQVRMAGAMP ARGGKRRSGM    50
    DFDDEDGEGP SKFSRENHSE IERRRRNKMT QYITELSDMV PTCSALARKP 100
    DKLTILRMAV SHMKSMRGTG NKSTDGAYKP SFLTEQELKH LILEAADGFL 150
    FVVAAETGRV IYVSDSVTPV LNQPQSEWFG STLYEQVHPD DVEKLREQLC 200
    TSENSMTGRI LDLKTGTVKK EGQQSSMRMC MGSRRSFICR MRCGNAPLDH 250
    LPLNRITTMR KRFRNGLGPV KEGEAQYAVV HCTGYIKAWP PAGMTIPEED 300
    ADVGQGSKYC LVAIGRLQVT SSPVCMDMNG MSVPTEFLSR HNSDGIITFV 350
    DPRCISVIGY QPQDLLGKDI LEFCHPEDQS HLRESFQQVV KLKGQVLSVM 400
    YRFRTKNREW MLIRTSSFTF QNPYSDEIEY IICTNTNVKQ LQQQQAELEV 450
    HQRDGLSSYD LSQVPVPNLP AGVHEAGKSV EKADAIFSQE RDPRFAEMFA 500
    GISASEKKMM SSASAAGTQQ IYSQGSPFPS GHSGKAFSSS VVHVPGVNDI 550
    QSSSSTGQNM SQISRQLNQS QVAWTGSRPP FPGQQIPSQS SKTQSSPFGI 600
    GTSHTYPADP SSYSPLSSPA TSSPSGNAYS SLANRTPGFA ESGQSSGQFQ 650
    GRPSEVWSQW QSQHHGQQSG EQHSHQQPGQ TEVFQDMLPM PGDPTQGTGN 700
    YNIEDFADLG MFPPFSE 717
    Length:717
    Mass (Da):78,691
    Last modified:February 6, 2007 - v2
    Checksum:iAC7524E97F617252
    GO
    Isoform 2 (identifier: Q9HBZ2-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-11: Missing.

    Show »
    Length:706
    Mass (Da):77,612
    Checksum:i2187A3C603EC7D39
    GO

    Sequence cautioni

    The sequence AAH36099.1 differs from that shown. Reason: Probable cloning artifact.
    The sequence BAA20766.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti28 – 281A → V in BX647212. (PubMed:17974005)Curated
    Sequence conflicti75 – 751R → K in BAA20766. (PubMed:9205841)Curated
    Sequence conflicti555 – 5551S → P in BX647212. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti679 – 6791G → S.1 Publication
    Corresponds to variant rs4072568 [ dbSNP | Ensembl ].
    VAR_049538

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 1111Missing in isoform 2. 2 PublicationsVSP_022687Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF185610
    , AF185593, AF185594, AF185595, AF185596, AF185597, AF185598, AF185599, AF185600, AF185601, AF185602, AF185603, AF185604, AF185605, AF185606, AF185607, AF185608, AF185609 Genomic DNA. Translation: AAG15310.1.
    AB002305 mRNA. Translation: BAA20766.2. Different initiation.
    AK295763 mRNA. Translation: BAG58589.1.
    BX647212 mRNA. No translation available.
    CH471136 Genomic DNA. Translation: EAW99114.1.
    BC036099 mRNA. Translation: AAH36099.1. Sequence problems.
    CCDSiCCDS32307.1. [Q9HBZ2-1]
    RefSeqiNP_055677.3. NM_014862.3. [Q9HBZ2-1]
    UniGeneiHs.459070.

    Genome annotation databases

    EnsembliENST00000303329; ENSP00000307479; ENSG00000172379. [Q9HBZ2-1]
    ENST00000527771; ENSP00000453792; ENSG00000172379. [Q9HBZ2-2]
    ENST00000533983; ENSP00000453651; ENSG00000172379. [Q9HBZ2-2]
    GeneIDi9915.
    KEGGihsa:9915.
    UCSCiuc002bfr.3. human. [Q9HBZ2-1]

    Polymorphism databases

    DMDMi125987793.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF185610
    , AF185593 , AF185594 , AF185595 , AF185596 , AF185597 , AF185598 , AF185599 , AF185600 , AF185601 , AF185602 , AF185603 , AF185604 , AF185605 , AF185606 , AF185607 , AF185608 , AF185609 Genomic DNA. Translation: AAG15310.1 .
    AB002305 mRNA. Translation: BAA20766.2 . Different initiation.
    AK295763 mRNA. Translation: BAG58589.1 .
    BX647212 mRNA. No translation available.
    CH471136 Genomic DNA. Translation: EAW99114.1 .
    BC036099 mRNA. Translation: AAH36099.1 . Sequence problems.
    CCDSi CCDS32307.1. [Q9HBZ2-1 ]
    RefSeqi NP_055677.3. NM_014862.3. [Q9HBZ2-1 ]
    UniGenei Hs.459070.

    3D structure databases

    ProteinModelPortali Q9HBZ2.
    SMRi Q9HBZ2. Positions 62-439.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115244. 9 interactions.
    IntActi Q9HBZ2. 4 interactions.
    MINTi MINT-2867815.
    STRINGi 9606.ENSP00000307479.

    PTM databases

    PhosphoSitei Q9HBZ2.

    Polymorphism databases

    DMDMi 125987793.

    Proteomic databases

    PaxDbi Q9HBZ2.
    PRIDEi Q9HBZ2.

    Protocols and materials databases

    DNASUi 9915.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000303329 ; ENSP00000307479 ; ENSG00000172379 . [Q9HBZ2-1 ]
    ENST00000527771 ; ENSP00000453792 ; ENSG00000172379 . [Q9HBZ2-2 ]
    ENST00000533983 ; ENSP00000453651 ; ENSG00000172379 . [Q9HBZ2-2 ]
    GeneIDi 9915.
    KEGGi hsa:9915.
    UCSCi uc002bfr.3. human. [Q9HBZ2-1 ]

    Organism-specific databases

    CTDi 9915.
    GeneCardsi GC15P080696.
    H-InvDB HIX0012493.
    HGNCi HGNC:16876. ARNT2.
    HPAi CAB005081.
    HPA001056.
    MIMi 606036. gene.
    neXtProti NX_Q9HBZ2.
    Orphaneti 370006. Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies.
    PharmGKBi PA24995.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG293303.
    HOGENOMi HOG000234380.
    HOVERGENi HBG000164.
    InParanoidi Q9HBZ2.
    KOi K15589.
    OMAi VCMDMSG.
    OrthoDBi EOG7V1FQ8.
    PhylomeDBi Q9HBZ2.
    TreeFami TF319983.

    Miscellaneous databases

    ChiTaRSi ARNT2. human.
    GeneWikii ARNT2.
    GenomeRNAii 9915.
    NextBioi 37404.
    PROi Q9HBZ2.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9HBZ2.
    Bgeei Q9HBZ2.
    CleanExi HS_ARNT2.
    Genevestigatori Q9HBZ2.

    Family and domain databases

    Gene3Di 4.10.280.10. 1 hit.
    InterProi IPR011598. bHLH_dom.
    IPR001067. Nuc_translocat.
    IPR001610. PAC.
    IPR000014. PAS.
    IPR013767. PAS_fold.
    [Graphical view ]
    Pfami PF00010. HLH. 1 hit.
    PF00989. PAS. 1 hit.
    [Graphical view ]
    PRINTSi PR00785. NCTRNSLOCATR.
    SMARTi SM00353. HLH. 1 hit.
    SM00086. PAC. 1 hit.
    SM00091. PAS. 2 hits.
    [Graphical view ]
    SUPFAMi SSF47459. SSF47459. 1 hit.
    SSF55785. SSF55785. 4 hits.
    TIGRFAMsi TIGR00229. sensory_box. 1 hit.
    PROSITEi PS50888. BHLH. 1 hit.
    PS50112. PAS. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Aryl hydrocarbon receptor nuclear translocator 2 (ARNT2): structure, gene mapping, polymorphisms, and candidate evaluation for human orofacial clefts."
      Barrow L.L., Wines M.E., Romitti P.A., Holdener B.C., Murray J.C.
      Teratology 66:85-90(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
      Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 4:141-150(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT SER-679.
      Tissue: Brain.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Hippocampus.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Amygdala.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-694 (ISOFORM 1).
      Tissue: Brain.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.

    Entry informationi

    Entry nameiARNT2_HUMAN
    AccessioniPrimary (citable) accession number: Q9HBZ2
    Secondary accession number(s): B4DIS7, O15024, Q8IYC2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 18, 2001
    Last sequence update: February 6, 2007
    Last modified: October 1, 2014
    This is version 133 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3